(used for variant description)
(last modified May 4, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001134775.1 in the KLC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering KLC2 transcript NM_001134775.1.
(upstream sequence)
g.5003
gcg c.-241
. . . . . . g.5063
agccagataacagcggcactcacttctcgggtcttcgtgagcattaagtcaatgaaccca c.-181
. . . . . . g.5123
gggcaccaaagcgcgcaacacgcagtaggcgctcagttagtggcgcctcgctctgtactc c.-121
. . . . . . g.5183
caggaagcccaaccttctccctgcgcctcagtttctcccgacgtcctcgatggcgccatg c.-61
. . | 02 . . . . g.6301
gcgccacactag | gcccggcgcccgcctgcccgcaccctcgtcctcacagacgccacagcc c.-1
. . . . . . g.6361
ATGGCCATGATGGTGTTTCCGCGGGAGGAGAAGCTGAGCCAGGATGAGATCGTGCTGGGC c.60
M A M M V F P R E E K L S Q D E I V L G p.20
. . . . . . g.6421
ACCAAGGCTGTCATCCAGGGACTGGAGACTCTGCGTGGGGAGCATCGTGCCCTGCTGGCT c.120
T K A V I Q G L E T L R G E H R A L L A p.40
. . . . . . g.6481
CCTCTGGTTGCACCTGAGGCCGGCGAAGCCGAGCCTGGCTCGCAGGAGCGCTGCATCCTC c.180
P L V A P E A G E A E P G S Q E R C I L p.60
. . . . | 03 . g.9460
CTGCGTCGCTCCCTGGAAGCCATTGAGCTTGGGCTGGGGGAGGCCCAG | GTGATCTTGGCA c.240
L R R S L E A I E L G L G E A Q | V I L A p.80
. . . . . . g.9520
TTGTCGAGCCACCTGGGGGCTGTAGAATCAGAGAAGCAGAAGCTGCGGGCGCAGGTGCGG c.300
L S S H L G A V E S E K Q K L R A Q V R p.100
. . . . . . g.9580
CGTCTGGTGCAGGAGAACCAGTGGCTGCGTGAGGAGCTGGCGGGGACACAGCAGAAGCTG c.360
R L V Q E N Q W L R E E L A G T Q Q K L p.120
. . . . . . g.9640
CAGCGCAGTGAGCAGGCCGTGGCCCAGCTCGAGGAGGAGAAGCAGCACTTGCTGTTCATG c.420
Q R S E Q A V A Q L E E E K Q H L L F M p.140
. . . | 04 . . g.9850
AGCCAGATCCGCAAGTTGGATGAAGACGCCTCCCCTAAC | GAGGAGAAGGGGGACGTCCCC c.480
S Q I R K L D E D A S P N | E E K G D V P p.160
. . . . | 05 . g.10531
AAAGACACACTGGATGACCTGTTCCCCAATGAGGATGAGCAGAGCCCAG | CCCCTAGCCCA c.540
K D T L D D L F P N E D E Q S P A | P S P p.180
. . . . . . g.10591
GGAGGAGGGGATGTGTCTGGTCAGCATGGGGGCTACGAGATCCCGGCCCGGCTCCGCACC c.600
G G G D V S G Q H G G Y E I P A R L R T p.200
. . . . . . g.10651
CTGCACAACCTGGTGATCCAATACGCCTCACAGGGCCGCTACGAGGTAGCTGTGCCACTC c.660
L H N L V I Q Y A S Q G R Y E V A V P L p.220
. . . . . . g.10711
TGCAAGCAGGCACTCGAAGACCTGGAGAAGACGTCAGGCCACGACCACCCTGACGTTGCC c.720
C K Q A L E D L E K T S G H D H P D V A p.240
. . . | 06 . . . g.11394
ACCATGCTGAACATCCTGGCACTGGTCTATCG | GGATCAGAACAAGTACAAGGAGGCTGCC c.780
T M L N I L A L V Y R | D Q N K Y K E A A p.260
. . . . . . g.11454
CACCTGCTCAATGATGCTCTGGCCATCCGGGAGAAAACACTGGGCAAGGACCACCCAGCC c.840
H L L N D A L A I R E K T L G K D H P A p.280
| 07 . . . . . . g.11617
| GTGGCTGCGACACTAAACAACCTGGCAGTCCTGTATGGCAAGAGGGGCAAGTACAAGGAG c.900
| V A A T L N N L A V L Y G K R G K Y K E p.300
. . . . | 08 . . g.11770
GCTGAGCCATTGTGCAAGCGGGCACTGGAGATCCGGGAGAAG | GTCCTGGGCAAGTTTCAC c.960
A E P L C K R A L E I R E K | V L G K F H p.320
. . . . . . g.11830
CCAGATGTGGCCAAGCAGCTCAGCAACCTGGCCCTGCTGTGCCAGAACCAGGGCAAAGCT c.1020
P D V A K Q L S N L A L L C Q N Q G K A p.340
. . . . . . g.11890
GAGGAGGTGGAATATTACTATCGGCGGGCACTGGAGATCTATGCTACACGCCTCGGGCCC c.1080
E E V E Y Y Y R R A L E I Y A T R L G P p.360
. . . | 09 . . . g.12075
GATGACCCCAATGTGGCCAAGACCAAGAACAACCTG | GCTTCCTGCTACCTGAAGCAGGGC c.1140
D D P N V A K T K N N L | A S C Y L K Q G p.380
. . . . . . g.12135
AAGTACCAGGATGCGGAGACCTTGTACAAGGAGATCCTCACCCGCGCTCATGAGAAAGAG c.1200
K Y Q D A E T L Y K E I L T R A H E K E p.400
. | 10 . . . . . g.12773
TTTGGCTCTGTCAATG | GGGACAACAAGCCCATCTGGATGCACGCAGAGGAGCGGGAGGAA c.1260
F G S V N G | D N K P I W M H A E E R E E p.420
| 11 . . . . . . g.12928
AGCAAG | GATAAGCGCCGGGACAGCGCCCCCTATGGGGAATACGGCAGCTGGTACAAGGCC c.1320
S K | D K R R D S A P Y G E Y G S W Y K A p.440
. | 12 . . . . . g.13407
TGTAAAGTAGACAG | CCCCACAGTCAACACCACCCTGCGCAGCTTGGGGGCCCTATACCGG c.1380
C K V D S | P T V N T T L R S L G A L Y R p.460
. . . . . . g.13467
CGCCAGGGCAAGCTGGAAGCCGCGCACACACTAGAGGACTGTGCCAGCCGTAACCGCAAG c.1440
R Q G K L E A A H T L E D C A S R N R K p.480
| 13 . . . . . . g.13617
CAG | GGTTTGGACCCCGCAAGCCAGACCAAGGTGGTAGAACTGCTGAAAGATGGCAGTGGC c.1500
Q | G L D P A S Q T K V V E L L K D G S G p.500
. . . . . . g.13677
AGGCGGGGAGACCGCCGCAGCAGCCGAGACATGGCTGGGGGTGCCGGGCCTCGGTCTGAG c.1560
R R G D R R S S R D M A G G A G P R S E p.520
. . . . | 14 . . g.13817
TCTGACCTCGAGGACGTGGGACCTACAGCTGAGTGGAATGGG | GATGGCAGTGGCTCCTTG c.1620
S D L E D V G P T A E W N G | D G S G S L p.540
. . . . . . g.13877
AGGCGCAGCGGTTCCTTTGGGAAACTCCGGGATGCCCTGAGGCGCAGCAGTGAGATGCTG c.1680
R R S G S F G K L R D A L R R S S E M L p.560
. . . . | 15. . g.14152
GTAAAGAAGCTGCAGGGGGGCACCCCCCAGGAGCCCCCTAACCCCAG | GATGAAGCGGGCC c.1740
V K K L Q G G T P Q E P P N P R | M K R A p.580
. . . . | 16 . . g.14594
AGTTCCCTCAACTTCCTCAACAAGAGCGTGGAAGAGCCGACCCAG | CCTGGAGGCACAGGT c.1800
S S L N F L N K S V E E P T Q | P G G T G p.600
. . . . . . g.14654
CTCTCTGACAGCCGCACTCTCAGCTCCAGCTCCATGGACCTCTCCCGACGAAGCTCCCTG c.1860
L S D S R T L S S S S M D L S R R S S L p.620
g.14663
GTGGGCTAA c.1869
V G X p.622
. . . . . . g.14723
tgctgaaggggcagccagtcaccagagcgcccacctggcacacccccctcaccccagccc c.*60
. . . . . . g.14783
tgcgcatgggcctgctgcttgtcccgcctgtctctcccacagcccctgtcttttctgttc c.*120
. . . . . . g.14843
aatctcagggtaaccttctcccttgtcatctcagcctgagccctggaggctgggcctgcc c.*180
. . . . . . g.14903
cactccagctccatcccttatttattccttccagcagggccctcttccctaggttcgggc c.*240
. . . . . . g.14963
cagcaggaggtgccggctggagtctccaccatagactcagtggcctggcctccccagacc c.*300
. . . . . . g.15023
ccagagccaagaacactaagcactcgccggcccttcggcaccctcgccctccctcccgac c.*360
. . . . . . g.15083
tcaacccggccgttgcttctgtatatagagaaataagttattggccgcgcgcctcccttc c.*420
. . . . . . g.15143
agtccacggtactacccgggcctcccctcgtccctcttctagtggtaccgcccaggcctt c.*480
. . . . . . g.15203
aatcacccccattccgtgcggtggtatctcccaggctctacattctcgggagcggcgcct c.*540
. . . . . . g.15263
cccaagggggtcctgggaccttctcgcgctcctcctggcctctgagggatgcgtcctacc c.*600
. . . . . . g.15323
cgcgccatcgccccgtggcccaggacggggacctccccttagtccgtcctcccaccgccg c.*660
. . . . . . g.15383
ggccctgccccgcatcccggccttatgcactgcccctcccacccggccccgcccaggcac c.*720
. . . . . . g.15443
ggccgaccccgccccgggcaccgcccaccgagccatcctgcctcgcctccccccacgcct c.*780
. . . . . . g.15503
gcagcttctcgcgaggggcggcgacggtcccctggtggcaggaggggctccccctgttgc c.*840
. . . . . . g.15563
gggtgaggcggctgctctcatattttcagatgttgctgtagaaataaagacggtttaaat c.*900
g.15567
ctga c.*904
(downstream sequence)
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